Mutagenetix > Incidental Mutation

Incidental Mutation 'R6911:Amt'

539032

Institutional Source

Beutler Lab

Gene Symbol

Amt

Ensembl Gene

ENSMUSG00000032607

Gene Name

aminomethyltransferase

Synonyms

EG434437

MMRRC Submission

045003-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108174104-108179501 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 108178428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000035230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007959] [ENSMUST00000035227] [ENSMUST00000035230] [ENSMUST00000035230] [ENSMUST00000044725] [ENSMUST00000192886] [ENSMUST00000195615]

AlphaFold

Q8CFA2

Predicted Effect

probably benign
Transcript: ENSMUST00000007959

SMART Domains

Protein: ENSMUSP00000007959
Gene: ENSMUSG00000007815

Domain	Start	End	E-Value	Type
RHO	8	181	1.09e-134	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000035227

Predicted Effect

probably null
Transcript: ENSMUST00000035230

SMART Domains

Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607

Domain	Start	End	E-Value	Type
Pfam:GCV_T	38	291	7.8e-86	PFAM
Pfam:GCV_T_C	300	392	1.6e-23	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000035230

SMART Domains

Protein: ENSMUSP00000035230
Gene: ENSMUSG00000032607

Domain	Start	End	E-Value	Type
Pfam:GCV_T	38	291	7.8e-86	PFAM
Pfam:GCV_T_C	300	392	1.6e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044725

SMART Domains

Protein: ENSMUSP00000045063
Gene: ENSMUSG00000039461

Domain	Start	End	E-Value	Type
Pfam:T_cell_tran_alt	15	122	1.3e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192886

SMART Domains

Protein: ENSMUSP00000142002
Gene: ENSMUSG00000039461

Domain	Start	End	E-Value	Type
Pfam:T_cell_tran_alt	15	106	1.5e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195615

SMART Domains

Protein: ENSMUSP00000141592
Gene: ENSMUSG00000039461

Domain	Start	End	E-Value	Type
Pfam:T_cell_tran_alt	15	103	2.9e-39	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.1%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of four critical components of the glycine cleavage system. Mutations in this gene have been associated with glycine encephalopathy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele develop neural tubes defects at high frequency and exhibit prenatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	A	15: 81,948,068 (GRCm39)	M655K	probably benign	Het
Adam34l	A	T	8: 44,078,146 (GRCm39)	F693I	probably benign	Het
Anapc7	A	T	5: 122,578,343 (GRCm39)	K443*	probably null	Het
Apcs	A	G	1: 172,721,752 (GRCm39)	V198A	probably benign	Het
Atp2a1	A	G	7: 126,056,008 (GRCm39)	V271A	probably damaging	Het
Bltp2	T	A	11: 78,159,179 (GRCm39)	I459N	probably damaging	Het
Cdh20	T	C	1: 104,912,411 (GRCm39)	I555T	possibly damaging	Het
Cgnl1	T	C	9: 71,563,497 (GRCm39)	E810G	possibly damaging	Het
Cntnap5c	A	G	17: 58,199,009 (GRCm39)	D101G	probably damaging	Het
Coq7	T	A	7: 118,109,385 (GRCm39)	H221L	unknown	Het
Depdc5	A	T	5: 33,081,536 (GRCm39)	Q566L	probably damaging	Het
Dync1i2	G	A	2: 71,077,446 (GRCm39)	V233I	probably benign	Het
Erp44	G	T	4: 48,204,268 (GRCm39)	H298N	probably benign	Het
Fam162a	A	G	16: 35,866,747 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,525,346 (GRCm39)	E274G	probably damaging	Het
Fkbp15	G	T	4: 62,258,527 (GRCm39)	Q147K	probably damaging	Het
Ganab	T	A	19: 8,885,152 (GRCm39)		probably null	Het
Gfm1	T	C	3: 67,358,636 (GRCm39)	V409A	possibly damaging	Het
Gnptab	G	A	10: 88,267,258 (GRCm39)	G450S	probably damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grid1	A	T	14: 34,542,185 (GRCm39)	M1L	probably benign	Het
Helz	C	T	11: 107,510,051 (GRCm39)	T558I	probably benign	Het
Htra4	A	G	8: 25,515,721 (GRCm39)	V439A	probably damaging	Het
Kctd17	A	G	15: 78,318,206 (GRCm39)	E95G	probably damaging	Het
Kif18b	T	C	11: 102,807,206 (GRCm39)	D43G	probably damaging	Het
Lrpprc	G	A	17: 85,063,711 (GRCm39)	S550L	possibly damaging	Het
Lrrfip1	T	A	1: 91,042,529 (GRCm39)	C311*	probably null	Het
Mcoln2	C	T	3: 145,898,011 (GRCm39)	T44I	probably damaging	Het
Med13l	A	G	5: 118,893,723 (GRCm39)	T2010A	possibly damaging	Het
Med23	C	T	10: 24,778,079 (GRCm39)	T803M	probably damaging	Het
Mfsd13a	T	C	19: 46,357,716 (GRCm39)	F290S	probably damaging	Het
Myh13	C	T	11: 67,245,753 (GRCm39)	Q1095*	probably null	Het
Nktr	C	A	9: 121,583,392 (GRCm39)	Y93*	probably null	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Ntrk2	A	T	13: 59,007,029 (GRCm39)	E210D	probably damaging	Het
Nup210	G	T	6: 91,007,112 (GRCm39)	A568E	probably damaging	Het
Or10ak9	T	A	4: 118,726,335 (GRCm39)	M119K	probably damaging	Het
Or2y1g	A	G	11: 49,171,634 (GRCm39)	I220V	probably benign	Het
Or4g16	A	G	2: 111,136,618 (GRCm39)	T23A	probably benign	Het
Or5as1	T	A	2: 86,980,111 (GRCm39)	K298I	probably damaging	Het
Pdlim5	T	C	3: 142,010,076 (GRCm39)	I289V	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Per1	C	T	11: 68,994,083 (GRCm39)	T443M	probably damaging	Het
Plxna1	A	G	6: 89,297,956 (GRCm39)	V1774A	probably damaging	Het
Poteg	A	G	8: 27,940,326 (GRCm39)	Y165C	probably damaging	Het
Prlr	A	G	15: 10,329,270 (GRCm39)	T582A	probably benign	Het
Psma5	A	G	3: 108,172,464 (GRCm39)	E60G	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Ryr2	T	C	13: 11,842,445 (GRCm39)	N484S	possibly damaging	Het
Sec31a	A	G	5: 100,541,123 (GRCm39)	I328T	possibly damaging	Het
Slc12a2	G	T	18: 58,052,541 (GRCm39)	V787L	probably benign	Het
St14	C	T	9: 31,018,081 (GRCm39)	R177Q	probably benign	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tom1l1	G	T	11: 90,534,987 (GRCm39)		probably null	Het
Ttf1	A	G	2: 28,954,863 (GRCm39)	R76G	probably benign	Het
Ube4a	C	T	9: 44,854,056 (GRCm39)	E581K	probably damaging	Het
Vmn2r114	A	G	17: 23,510,104 (GRCm39)	V792A	probably damaging	Het
Wdr11	T	C	7: 129,208,819 (GRCm39)	I430T	probably benign	Het
Xkr4	T	C	1: 3,741,544 (GRCm39)	K10E	possibly damaging	Het
Zfp451	T	C	1: 33,842,537 (GRCm39)		probably benign	Het

Other mutations in Amt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02657:Amt	APN	9	108,178,579 (GRCm39)	missense	probably damaging	1.00
IGL03277:Amt	APN	9	108,178,418 (GRCm39)	missense	probably benign
R1333:Amt	UTSW	9	108,178,296 (GRCm39)	missense	probably benign	0.04
R1856:Amt	UTSW	9	108,174,361 (GRCm39)	missense	probably damaging	1.00
R3843:Amt	UTSW	9	108,174,420 (GRCm39)	missense	possibly damaging	0.74
R3844:Amt	UTSW	9	108,174,420 (GRCm39)	missense	possibly damaging	0.74
R3903:Amt	UTSW	9	108,174,420 (GRCm39)	missense	possibly damaging	0.74
R3904:Amt	UTSW	9	108,174,420 (GRCm39)	missense	possibly damaging	0.74
R4729:Amt	UTSW	9	108,177,851 (GRCm39)	missense	probably damaging	1.00
R4814:Amt	UTSW	9	108,176,979 (GRCm39)	missense	probably benign
R5149:Amt	UTSW	9	108,178,650 (GRCm39)	missense	possibly damaging	0.59
R6000:Amt	UTSW	9	108,178,684 (GRCm39)	missense	probably benign	0.20
R6044:Amt	UTSW	9	108,174,450 (GRCm39)	missense	probably damaging	1.00
R6957:Amt	UTSW	9	108,177,032 (GRCm39)	missense	possibly damaging	0.51
R7618:Amt	UTSW	9	108,177,077 (GRCm39)	missense	probably damaging	1.00
R7658:Amt	UTSW	9	108,174,430 (GRCm39)	missense	probably damaging	0.98
R7783:Amt	UTSW	9	108,174,414 (GRCm39)	nonsense	probably null
R9276:Amt	UTSW	9	108,178,410 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTATGTTCCAGGGAAGCGC -3'
(R):5'- GGCATTTTGCTAACCACTGTC -3'

Sequencing Primer
(F):5'- CCGCCGCATTGCTATGGAC -3'
(R):5'- ACTTCCACCAGCAGCTGTG -3'

Posted On

2018-11-06